HsaEX0000329 @ hg38
Exon Skipping
Gene
ENSG00000154258 | ABCA9
Description
ATP binding cassette subfamily A member 9 [Source:HGNC Symbol;Acc:HGNC:39]
Coordinates
chr17:68985053-68989118:-
Coord C1 exon
chr17:68989027-68989118
Coord A exon
chr17:68986164-68986324
Coord C2 exon
chr17:68985053-68985128
Length
161 bp
Sequences
Splice sites
3' ss Seq
AATGAACTTATTTTGCATAGGTG
3' ss Score
5.11
5' ss Seq
ACGGTACCT
5' ss Score
6.79
Exon sequences
Seq C1 exon
GTGAAGTTATAGGACTGTTAGGACACAATGGAGCTGGTAAAAGTACAACTATTAAGATGATAACTGGAGACACAAAACCAACTGCAGGACAG
Seq A exon
GTGATTTTGAAAGGGAGCGGTGGAGGGGAACCCCTGGGCTTCCTGGGGTACTGCCCTCAGGAGAATGCGCTGTGGCCCAACCTGACAGTGAGGCAGCACCTGGAGGTGTACGCTGCCGTGAAAGGTCTCAGGAAAGGGGACGCAATGATCGCCATCACACG
Seq C2 exon
GTTAGTGGATGCGCTCAAGCTGCAGGACCAGCTGAAGGCTCCCGTGAAGACCTTGTCAGAGGGAATAAAGCGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154258_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.194 A=0.056 C2=0.000
Domain overlap (PFAM):
C1:
PF0000522=ABC_tran=FE(21.3=100)
A:
PF0000522=ABC_tran=FE(37.6=100)
C2:
PF0000522=ABC_tran=FE(17.7=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAGTTATAGGACTGTTAGGACACA
R:
CGCTTTATTCCCTCTGACAAGGT
Band lengths:
163-324
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development